Patients are powerful messengers

Anastacia has had breast cancer twice, first when she was only 34 years of age. She has been tireless in raising breast cancer awareness and is an inspiring exemplar of not letting illness impede your dreams.

Impressively, Anastacia was very informed about my team’s work. She was also passionate about the enabling, empowering value of genetic information in helping people to make choices. This made the message so much more powerful and real and engaging. It was a pleasure to be her wingman!

Global connectivity offers new opportunities for patient power

In the same week, I received an email from the mother of a child who has a mutation in the PPP2R5D gene. This is one of the genes my group has reported on. Certain mutations in the gene are associated with increased growth and intellectual disability. There is a very active facebook group for this syndrome. The group are collecting information about how PPP2R5D mutations affect children. The mother sent us this information for her child, unsolicited, to help our research. It was wonderful!

There are similar facebook pages and websites for many other genetic conditions. We should aspire to have a patient-powered group for every genetic condition.

Patient powered research can simplify consent

If I had tried to set up a research project to get information from patients with a PPP2R5D mutation I would have had to submit proposals, undergo review from various committees and gain approval from ethics and research boards. It would have been many months, possibly years before I could start.

It is, of course, important that appropriate procedures and informed consent processes are followed when obtaining information from other people. But if patients themselves decide to collect and disseminate their own information, many of the consent issues become redundant, or at least, simplified.

Patient power can drive innovation

For some conditions patient groups have already played a critical role in driving forward research and treatments. For example, the recent successes in developing genetic therapies for cystic fibrosis would not have been possible without the support, creativity and drive of cystic fibrosis patients. In particular, patient-reported outcomes have been a key metric in evaluating the effectiveness of cystic fibrosis therapies.

We should aspire to have a patient-powered group for every genetic condition.

We are also increasingly seeing consumer-driven drug development for rare genetic diseases that are not financially attractive targets for traditional pharmaceutical companies. For example, Karen Aiach founded Lysogene to develop a treatment for Sanfilippo syndrome A, which affects her daughter.

Partnership between patients and researchers is crucial

Individual patient stories can be very impactful, but they can sometimes also be misleading or overly-influential in driving priorities. Collaboration between patients, scientists and clinicians, based on the respectful recognition of complementary strengths, is the optimal configuration. Science can appropriately translate patient experience into new insights, clinicians can safely translate those insights into new practice. This helps more patients. Everyone wins.

Patient expectation can drive change

When I first started talking to patients about BRCA testing, 20 years ago, I had to explain about DNA, genes, genetics, why there were links between genes and cancers. These were new concepts and terms to virtually all our patients.

Now, “DNA” has become a generic term for “blueprint”. “It’s in our DNA” seems to have become a default phrase in company mission statements! In turn, patients are more aware of the terms and concepts involved in genetic medicine. Now many patients ask us for the BRCA test before we have said anything!

This change in patient awareness and patient expectation was the primary driver behind our mainstreaming programme, which has simplified access to BRCA testing for cancer patients. When we initially proposed consent could be taken in the cancer clinic there was concern from some that it was neither possible nor ethical. The concerns were understandable based on patient knowledge and expectations in 1995, but were out-of-step with knowledge and expectations in 2015.

Patient acceptability of mainstream testing has been extremely high. At the Royal Marsden, over 95% of cancer patients accept BRCA testing offered at their cancer clinic appointment. I was one of the main drivers of this change in practice and yet I was still surprised at how far and how fast people’s perceptions of cancer gene testing had evolved.

Patient power will drive global uptake of genetic medicine

With respect to access to BRCA testing the clinical and research community had fallen behind the curve of patient needs, in other areas sometimes we can go too far ahead. What society expects and accepts is not hard wired. It can change rapidly and idiosyncratically (as world events have shown us many times in 2016!).

Close communication and collaboration with the people affected by genetic medicine is vital to keeping researchers and doctors on the right track. Supporting and harnessing patient power will be central to maximising the global benefits of genetic medicine.